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dopamine beta-hydroxylase deficiency
Summary
- Synonym
-
- congenital dopamine beta-hydroxylase deficiency
- noradrenaline deficiency
- norepinephrine deficiency
- Definition
- An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.
- Super Class
- inherited metabolic disorder nervous system disease
External Links
- Disease Ontology
- DOID:0090145
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09172 | Dopamine beta-hydroxylase | |
| P11021 | Endoplasmic reticulum chaperone BiP |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q64237 | Dopamine beta-hydroxylase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q03614 | Sodium-dependent dopamine transporter |
